Variant report

Variant	rs4599792
Chromosome Location	chr8:132258960-132258961
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:132249911..132252163-chr8:132258560..132261164,2	K562	blood:
2	chr8:132258327..132259215-chr8:132816586..132817090,2	MCF-7	breast:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10956581	0.82[ASN][1000 genomes]
rs11777860	0.91[ASN][1000 genomes]
rs12676393	0.85[ASN][1000 genomes]
rs12681982	0.92[ASN][1000 genomes]
rs28889005	0.90[ASN][1000 genomes]
rs4128913	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4448257	0.90[ASN][1000 genomes]
rs4543523	0.92[ASN][1000 genomes]
rs4610725	0.92[ASN][1000 genomes]
rs4736764	0.92[ASN][1000 genomes]
rs4736769	0.86[ASN][1000 genomes]
rs6470907	0.92[ASN][1000 genomes]
rs6470915	0.92[ASN][1000 genomes]
rs6470916	0.92[ASN][1000 genomes]
rs6983194	0.84[ASN][1000 genomes]
rs7011825	0.90[ASN][1000 genomes]
rs7461132	0.92[ASN][1000 genomes]
rs7464150	0.92[ASN][1000 genomes]
rs7831270	0.92[ASN][1000 genomes]
rs7833260	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030881	chr8:131801472-132654822	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1028579	chr8:131909872-132497149	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1026579	chr8:131922531-132695045	Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv2761471	chr8:131963290-132281905	Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv491831	chr8:132161619-132539748	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv891450	chr8:132186618-132261701	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv1025376	chr8:132214793-132281893	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv891451	chr8:132252439-132311479	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:132253800-132259000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr8:132258400-132259200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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